Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 188056 single nucleotide variant NM_017763.5(RNF43):c.394C>T (p.Arg132Ter) 786205215 MedGen:C3272797;MedGen:CN238478,OMIM:617108 17 58363582 58363582 G A 188056 single nucleotide variant NM_017763.5(RNF43):c.394C>T (p.Arg132Ter) 786205215 MedGen:C3272797;MedGen:CN238478,OMIM:617108 17 56440943 56440943 G A 248607 undetermined variant RNF43, ARG113TER -1 MedGen:CN238478,OMIM:617108 na -1 -1 na na

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 17 56450454 rs113212925 C G,T rs113212925 4.02E-06 COCAINE CDK1 PROTEIN, HUMAN|NUCLEAR RECEPTOR CO-REPRESSOR 2|NCOR2 PROTEIN, HUMAN|CYCLIN-DEPENDENT KINASES|DOPAMINE UPTAKE INHIBITORS Cocaine dependence HPOID:0000707 DOID:9975 C intron GWASdb_drug 17 56450454 rs113212925 C G,T rs113212925 6.97E-04 COCAINE CDK1 PROTEIN, HUMAN|NUCLEAR RECEPTOR CO-REPRESSOR 2|NCOR2 PROTEIN, HUMAN|CYCLIN-DEPENDENT KINASES|DOPAMINE UPTAKE INHIBITORS Cocaine dependence HPOID:0000707 DOID:9975 C intron GWASdb_drug 17 56488380 rs114469297 A G rs114469297 7.07E-04 COCAINE CDK1 PROTEIN, HUMAN|NUCLEAR RECEPTOR CO-REPRESSOR 2|NCOR2 PROTEIN, HUMAN|CYCLIN-DEPENDENT KINASES|DOPAMINE UPTAKE INHIBITORS Cocaine dependence HPOID:0000707 DOID:9975 A intron GWASdb_drug 17 56431453 rs13414 A G rs13414 9.80E-06 Urinary metabolites HPOID:0000079 DOID:557 C UTR-3 GWASdb_trait 17 56431453 rs13414 A G rs13414 7.88E-04 Acute lung injury HPOID:0002088 DOID:850 C UTR-3 GWASdb_trait 17 56431530 rs2877877 A G rs2877877 7.88E-04 Acute lung injury HPOID:0002088 DOID:850 A UTR-3 GWASdb_trait 17 56431549 rs2680702 A G rs2680702 1.10E-05 Urinary metabolites HPOID:0000079 DOID:557 C UTR-3 GWASdb_trait 17 56432362 rs2158460 C G rs2158460 7.88E-04 Acute lung injury HPOID:0002088 DOID:850 T intron GWASdb_trait 17 56433448 rs10515157 G A rs10515157 7.88E-04 Acute lung injury HPOID:0002088 DOID:850 G intron GWASdb_trait 17 56438301 rs2680701 G A rs2680701 4.84E-28 Circulating myeloperoxidase levels (plasma) HPOID:0001677 DOID:3393 C missense GWASdb_trait 17 56438301 rs2680701 G A rs2680701 4.98E-10 Circulating myeloperoxidase levels (plasma) HPOID:0001677 DOID:3393 C missense GWASdb_trait 17 56438624 rs11079348 G T rs11079348 5.77E-04 Acute lung injury HPOID:0002088 DOID:850 G intron GWASdb_trait 17 56440542 rs2680700 G T rs2680700 5.60E-08 Primary tooth development (number of teeth) HPOID:0006481 DOID:1091 A intron GWASdb_trait 17 56440542 rs2680700 G T rs2680700 4.73E-06 Lipoproteins HPOID:0003119|HPOID:0002621 DOID:3146|DOID:1287|DOID:9970 A intron GWASdb_trait 17 56448297 rs2257205 C T rs2257205 8.00E-06 Pancreatic cancer HPOID:0006725 DOID:1793 G missense GWASdb_trait 17 56450454 rs113212925 C G,T rs113212925 4.02E-06 Cocaine dependence HPOID:0000707 DOID:9975 C intron GWASdb_trait 17 56450454 rs113212925 C G,T rs113212925 6.97E-04 Cocaine dependence HPOID:0000707 DOID:9975 C intron GWASdb_trait 17 56472119 rs3785493 T G rs3785493 1.70E-06 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait 17 56473132 rs8078280 A G rs8078280 7.70E-06 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait 17 56473259 rs9889419 T C rs9889419 3.43E-04 Response to taxane treatment (placlitaxel) HPOID:0100526 DOID:1324 T intron GWASdb_trait 17 56481944 rs10515155 A G rs10515155 3.60E-04 Volumetric brain MRI HPOID:0001626 DOID:1561 A intron GWASdb_trait 17 56481944 rs10515155 A G rs10515155 3.90E-06 Urinary metabolites HPOID:0000079 DOID:557 A intron GWASdb_trait 17 56481944 rs10515155 A G rs10515155 1.01E-04 Lymphocyte counts HPOID:0004332|HPOID:0002665 DOID:2841|DOID:1240|DOID:0060058|DOID:614|DOID:1287 A intron GWASdb_trait 17 56485358 rs1476596 A G rs1476596 8.77E-05 Response to taxane treatment (placlitaxel) HPOID:0100526 DOID:1324 T intron GWASdb_trait 17 56488063 rs3785492 T C rs3785492 9.14E-04 Suicide attempts in bipolar disorder HPOID:0007302 DOID:3312 A intron GWASdb_trait 17 56488380 rs114469297 A G rs114469297 7.07E-04 Cocaine dependence HPOID:0000707 DOID:9975 A intron GWASdb_trait 17 56492800 rs3744093 T C rs3744093 2.28E-05 Dental caries HPOID:0000670 DOID:216 A missense GWASdb_trait 17 56492800 rs3744093 T C rs3744093 3.45E-04 Response to taxane treatment (placlitaxel) HPOID:0100526 DOID:1324 A missense GWASdb_trait 17 56492800 rs3744093 T C rs3744093 3.84E-05 Anxiety and major depressive disorder HPOID:0000716 DOID:1470|DOID:2030 A missense GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000108375.12 RNF43 612482